Institutional members access full text with Ovid®

Share this article on:

Craniofacial Growth in Patients With FGFR3Pro250Arg Mutation After Fronto-Orbital Advancement in Infancy

Ridgway, Emily B. MD; Wu, June K. MD; Sullivan, Stephen R. MD, MPH; Vasudavan, Sivabalan BDSc, MDSc, MPH; Padwa, Bonnie L. DMD, MD; Rogers, Gary F. MD, JD, MPH, MBA; Mulliken, John B. MD

Journal of Craniofacial Surgery: March 2011 - Volume 22 - Issue 2 - p 455-461
doi: 10.1097/SCS.0b013e3182077d93
Original Articles

Background: The facial features of children with FGFR3Pro250Arg mutation (Muenke syndrome) differ from those with the other eponymous craniosynostotic disorders. We documented midfacial growth and position of the forehead after fronto-orbital advancement (FOA) in patients with the FGFR3 mutation.

Methods: We retrospectively reviewed all patients who had an FGFR3Pro250Arg mutation and craniosynostosis. Only patients who had FOA in infancy or early childhood were included. The clinical records were evaluated for type of sutural fusion; midfacial hypoplasia and other clinical data, including age at operation; type of procedures and fixation (wire vs resorbable plate); frequency of frontal readvancement, forehead augmentation, midfacial advancement; and complications.

Preoperative and postoperative sagittal orbital-globe relationship was measured by direct anthropometry. Outcome of FOA was graded according to the Whittaker classification as category I, no revision; category II, minor revisions, that is, foreheadplasty; category III, alternative bony work; category IV; redo of initial procedure (ie, secondary FOA). Midfacial position was determined by clinical examination and lateral cephalometry.

Results: A total of 21 study patients with Muenke syndrome (8 males and 13 females) were analyzed. The types of craniosynostosis were bilateral coronal (n = 15), of which 3 also had concurrent sagittal fusion, and unilateral coronal (n = 5). Two patients had early endoscopic suturectomy, but later required FOA. Mean age at FOA was 22.9 months (range, 3-128 months). Secondary FOA was necessary in 40% of patients (n = 8), and secondary foreheadplasty in 25% (n = 5) of patients. No frontal revisions were needed in the remaining 35% of patients (n = 7). Mean age at initial FOA was significantly younger in the group requiring repeat FOA or foreheadplasty compared with patients who did not require revision (P < 0.05). Location of synostosis, type of fixation, and bone grafting did not significantly affect the need for revision. Only 30% (n = 6) of patients developed midfacial retrusion.

Conclusions: The frequency of frontal revision in patients with Muenke syndrome who had FOA in infancy and early childhood is lower than previously reported. Age at forehead advancement inversely correlated with the incidence of relapse and need for secondary frontal procedures. Midfacial retrusion is relatively uncommon in FGFR3Pro250Arg patients.

From the Craniofacial Centre, Division of Plastic and Oral Surgery, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts.

Received June 6, 2010.

Accepted for publication July 27, 2010.

Address correspondence and reprint requests to John B. Mulliken, MD, Department of Plastic and Oral Surgery, Boston Children's Hospital, 300 Longwood Ave, Boston, MA 02215; E-mail:

Preliminary presentation at the Xth Congress of the International Craniofacial Society, Monterey, California, September 23, 2003.

The authors report no conflicts of interest.

© 2011 Mutaz B. Habal, MD